Preparing for your appointmentBy Mayo Clinic staff
How you learn whether your child has dwarfism will depend on the degree to which it affects his or her development. Disproportionate dwarfism is usually apparent at birth or early in infancy. Proportionate dwarfism may not be diagnosed until later in childhood or adolescence if your child isn't growing at an expected rate.
Well-baby visits and annual checkups
It's important to take your child to all regularly scheduled well-baby visits and annual appointments throughout childhood. These visits are an opportunity for your child's doctor to track growth, note delays in expected growth and identify other problems in physical development.
Questions your child's doctor might ask you may include the following:
- What concerns do you have about your child's growth or development?
- How well does he or she eat?
- Is your child reaching certain milestones in development, such as rolling over, pushing up, sitting up, crawling, walking or speaking?
- Are other members of the family very short, or have others experienced growth delays?
- Do you have your child's height marked on a measuring chart to show the doctor?
- Do you have photographs of your child at various ages to show the doctor?
Talking to your doctor about dwarfism
If your family doctor or pediatrician believes that your child exhibits signs of dwarfism, you may want to discuss the following questions:
- What diagnostic tests will we need?
- When will we know the results of the tests?
- What specialists will we need to see?
- How will we screen for disorders or complications that are commonly associated with the type of dwarfism affecting my child?
- How will you monitor my child's health and development?
- Can you suggest educational materials and local support services for dwarfism?
- Dwarfism: Frequently asked questions. Little People of America. http://www.lpaonline.org/mc/page.do?sitePageId=84634. Accessed July 3, 2011.
- Wright MJ, et al. Clinical management of achondroplasia. Archives of Diseases in Childhood. In press. Accessed July 3, 2011.
- Canale ST. Osteochondrosis or Epiphysitis and Other Miscellaneous Affections. In: Canale ST, et al. Campbell's Operative Orthopaedics. 11th ed. Philadelphia, Pa.:Mosby Elsevier; 2007. http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-323-03329-9..50032-5--cesec54&isbn=978-0-323-03329-9&sid=1176248236&uniqId=263706808-3#4-u1.0-B978-0-323-03329-9..50032-5--cesec59. Accessed July 3, 2011.
- Hypochondroplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=hypochondroplasia. Accessed July 3, 2011.
- Spondyloepiphyseal dysplasia congenita. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=spondyloepiphysealdysplasiacongenita. Accessed July 3, 2011.
- Diastrophic dysplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=diastrophicdysplasia. Accessed July 3, 2011.
- Hypopituitarism in children resulting in short stature. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/print/sec13/ch161/ch161d.html. Accessed July 3, 2011.
- Learning about Turner syndrome. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=19519119. Accessed July 3, 2011.
- Achondroplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=achondroplasia. Accessed July 3, 2011.
- Richmond EJ. Diagnosis of growth hormone deficiency in children. http://www.uptodate.com/home/index.html. Accessed July 3, 2011.
- Horton WA, et al. Achondroplasia. The Lancet. 2007;370:162.